General stats about the patient cohort
| Stat | Value |
|---|---|
| Unique HPO terms | 1476 |
| Cohort size | 107 |
| Rejected patients by empty profile | 0 |
| HPOs per patient (average) | 28.3645 |
| HPO terms per patient: percentile 90 | 9 |
| Percentage of HPO with more specific children | 67.7759 |
| DsI for uniq HP terms | 0 |
| DsI for frequency weigthed HP terms | 0 |
| Number of unknown phenotypes | 0 |
HPOs more frequent in the cohort
| HPO | Patient percentage |
|---|---|
| Seizure | 28.037383177570092 |
| Fatigue | 25.233644859813083 |
| Abdominal pain | 20.5607476635514 |
| Hepatomegaly | 19.626168224299064 |
| Splenomegaly | 18.69158878504673 |
| Weight loss | 18.69158878504673 |
| Thrombocytopenia | 16.822429906542055 |
| Headache | 14.953271028037381 |
| Fever | 14.953271028037381 |
| Hypertension | 14.953271028037381 |
| Subcutaneous nodule | 14.018691588785046 |
| Anemia | 13.084112149532709 |
| Cataract | 13.084112149532709 |
| Gastrointestinal hemorrhage | 13.084112149532709 |
| Intellectual disability | 12.149532710280374 |
| Nausea and vomiting | 12.149532710280374 |
| Proteinuria | 12.149532710280374 |
| Hematuria | 12.149532710280374 |
| Lymphadenopathy | 11.214953271028037 |
| Arthralgia | 10.2803738317757 |
| Dysphagia | 10.2803738317757 |
| Scoliosis | 9.345794392523365 |
| Strabismus | 9.345794392523365 |
| Respiratory insufficiency | 9.345794392523365 |
| Pruritus | 9.345794392523365 |
| Chest pain | 9.345794392523365 |
| Dyspnea | 9.345794392523365 |
| Cough | 9.345794392523365 |
| Anorexia | 8.411214953271028 |
| Venous thrombosis | 8.411214953271028 |
| Depressivity | 8.411214953271028 |
| Anxiety | 8.411214953271028 |
| Hydrocephalus | 8.411214953271028 |
| Glaucoma | 8.411214953271028 |
| Hearing impairment | 8.411214953271028 |
| Bone pain | 8.411214953271028 |
| Paresthesia | 7.476635514018691 |
| Macrocephaly | 7.476635514018691 |
| Short stature | 7.476635514018691 |
| Ataxia | 7.476635514018691 |
| Hemoptysis | 7.476635514018691 |
| Pulmonary embolism | 7.476635514018691 |
| Papule | 7.476635514018691 |
| Ascites | 7.476635514018691 |
| Elevated hepatic transaminase | 7.476635514018691 |
| Retinal detachment | 7.476635514018691 |
| Alopecia | 7.476635514018691 |
| Recurrent respiratory infections | 7.476635514018691 |
| Hypercalcemia | 7.476635514018691 |
| Hyperhidrosis | 6.5420560747663545 |
| Lymphedema | 6.5420560747663545 |
| Renal insufficiency | 6.5420560747663545 |
| Blindness | 6.5420560747663545 |
| Myocardial infarction | 6.5420560747663545 |
| Arterial thrombosis | 6.5420560747663545 |
| Congestive heart failure | 6.5420560747663545 |
| Muscle weakness | 6.5420560747663545 |
| Palpitations | 6.5420560747663545 |
| Delayed puberty | 6.5420560747663545 |
| Acute kidney injury | 6.5420560747663545 |
| Irregular hyperpigmentation | 5.607476635514018 |
| Malabsorption | 5.607476635514018 |
| Vertigo | 5.607476635514018 |
| Developmental regression | 5.607476635514018 |
| Jaundice | 5.607476635514018 |
| Portal hypertension | 5.607476635514018 |
| Gastroesophageal reflux | 5.607476635514018 |
| Visual loss | 5.607476635514018 |
| Optic atrophy | 5.607476635514018 |
| Failure to thrive | 5.607476635514018 |
| Macule | 5.607476635514018 |
| Cognitive impairment | 5.607476635514018 |
| Telangiectasia of the skin | 5.607476635514018 |
| Venous insufficiency | 5.607476635514018 |
| Skin ulcer | 5.607476635514018 |
| Skin rash | 5.607476635514018 |
| Pancytopenia | 5.607476635514018 |
| Osteolysis | 5.607476635514018 |
| Stroke | 4.672897196261682 |
| Cerebral hemorrhage | 4.672897196261682 |
| Cerebral calcification | 4.672897196261682 |
| Neoplasm of the skin | 4.672897196261682 |
| Tall stature | 4.672897196261682 |
| Hypotonia | 4.672897196261682 |
| Angina pectoris | 4.672897196261682 |
| Meningioma | 4.672897196261682 |
| Joint hyperflexibility | 4.672897196261682 |
| Photophobia | 4.672897196261682 |
| Arthritis | 4.672897196261682 |
| Pancreatitis | 4.672897196261682 |
| Migraine | 4.672897196261682 |
| Memory impairment | 4.672897196261682 |
| Increased intracranial pressure | 4.672897196261682 |
| Myalgia | 4.672897196261682 |
| Cranial nerve paralysis | 4.672897196261682 |
| Gangrene | 4.672897196261682 |
| Diabetes mellitus | 4.672897196261682 |
| Spasticity | 4.672897196261682 |
| Epistaxis | 4.672897196261682 |
| Myopia | 4.672897196261682 |
| Nephrotic syndrome | 4.672897196261682 |
| Microphthalmia | 4.672897196261682 |
| Pedal edema | 4.672897196261682 |
| Renal cell carcinoma | 4.672897196261682 |
| Corneal opacity | 4.672897196261682 |
| Hydrops fetalis | 4.672897196261682 |
| Microcephaly | 4.672897196261682 |
| Cellulitis | 4.672897196261682 |
| Osteopenia | 4.672897196261682 |
| Pallor | 4.672897196261682 |
| Tremor | 4.672897196261682 |
| Visual impairment | 4.672897196261682 |
| Pulmonary arterial hypertension | 4.672897196261682 |
| Recurrent fractures | 4.672897196261682 |
| Bone marrow hypocellularity | 4.672897196261682 |
| Nephrolithiasis | 4.672897196261682 |
| Joint swelling | 4.672897196261682 |
| Hypothyroidism | 4.672897196261682 |
| Neurological speech impairment | 3.7383177570093453 |
| Intracranial hemorrhage | 3.7383177570093453 |
| Delayed skeletal maturation | 3.7383177570093453 |
| Thyroid carcinoma | 3.7383177570093453 |
| Skeletal muscle atrophy | 3.7383177570093453 |
| Cachexia | 3.7383177570093453 |
| Uterine neoplasm | 3.7383177570093453 |
| Visceral angiomatosis | 3.7383177570093453 |
| Retinopathy | 3.7383177570093453 |
| Irritability | 3.7383177570093453 |
| Meningitis | 3.7383177570093453 |
| Abnormal myocardium morphology | 3.7383177570093453 |
| Pericarditis | 3.7383177570093453 |
| Pleural effusion | 3.7383177570093453 |
| Cerebral ischemia | 3.7383177570093453 |
| Abnormal blistering of the skin | 3.7383177570093453 |
| Glomerulopathy | 3.7383177570093453 |
| Cirrhosis | 3.7383177570093453 |
| Intestinal obstruction | 3.7383177570093453 |
| Acute hepatic failure | 3.7383177570093453 |
| Adrenocortical carcinoma | 3.7383177570093453 |
| Enlarged polycystic ovaries | 3.7383177570093453 |
| Stomach cancer | 3.7383177570093453 |
| Emotional lability | 3.7383177570093453 |
| Transient ischemic attack | 3.7383177570093453 |
| Arterial stenosis | 3.7383177570093453 |
| Chylothorax | 3.7383177570093453 |
| Peripheral arteriovenous fistula | 3.7383177570093453 |
| Nystagmus | 3.7383177570093453 |
| Patent ductus arteriosus | 3.7383177570093453 |
| Cryptorchidism | 3.7383177570093453 |
| Abnormality of the voice | 3.7383177570093453 |
| Atherosclerosis | 3.7383177570093453 |
| Kyphosis | 3.7383177570093453 |
| High palate | 3.7383177570093453 |
| Hypopigmented skin patches | 3.7383177570093453 |
| Abnormality of skin pigmentation | 3.7383177570093453 |
| Erythema | 3.7383177570093453 |
| Constipation | 3.7383177570093453 |
| Neoplasm of the lung | 3.7383177570093453 |
| Multiple lipomas | 3.7383177570093453 |
| Dry skin | 3.7383177570093453 |
| Hyperkeratosis | 3.7383177570093453 |
| Skin plaque | 3.7383177570093453 |
| Autoimmunity | 3.7383177570093453 |
| Chronic kidney disease | 3.7383177570093453 |
| Osteoporosis | 3.7383177570093453 |
| Multiple renal cysts | 3.7383177570093453 |
| Nausea | 3.7383177570093453 |
| Peripheral neuropathy | 3.7383177570093453 |
| Attention deficit hyperactivity disorder | 3.7383177570093453 |
| Sensorineural hearing impairment | 3.7383177570093453 |
| Diabetes insipidus | 3.7383177570093453 |
| Reduced bone mineral density | 3.7383177570093453 |
| Myelodysplasia | 3.7383177570093453 |
| Joint stiffness | 3.7383177570093453 |
| Pulmonary fibrosis | 3.7383177570093453 |
| Osteomyelitis | 3.7383177570093453 |
| Diarrhea | 3.7383177570093453 |
| Sepsis | 3.7383177570093453 |
| Proptosis | 3.7383177570093453 |
| Abnormal bleeding | 3.7383177570093453 |
| Abdominal distention | 3.7383177570093453 |
| Increased lactate dehydrogenase level | 3.7383177570093453 |
| Vitreous hemorrhage | 3.7383177570093453 |
| Poor appetite | 3.7383177570093453 |
| Sarcoma | 3.7383177570093453 |
| Thrombocytosis | 3.7383177570093453 |
| Leukocytosis | 3.7383177570093453 |
| Ependymoma | 3.7383177570093453 |
| Acute myeloid leukemia | 3.7383177570093453 |
| Astrocytoma | 3.7383177570093453 |
| Pheochromocytoma | 3.7383177570093453 |
| Behavioral abnormality | 2.803738317757009 |
| Dementia | 2.803738317757009 |
| Pain | 2.803738317757009 |
| Micrognathia | 2.803738317757009 |
| Anteverted nares | 2.803738317757009 |
| Abnormality of the optic nerve | 2.803738317757009 |
| Pectus excavatum | 2.803738317757009 |
| Telangiectasia | 2.803738317757009 |
| Hypoglycemia | 2.803738317757009 |
| Lymphoma | 2.803738317757009 |
| Multiple cafe-au-lait spots | 2.803738317757009 |
| Lipoma | 2.803738317757009 |
| Acne | 2.803738317757009 |
| Keratoconjunctivitis sicca | 2.803738317757009 |
| Gait disturbance | 2.803738317757009 |
| Confusion | 2.803738317757009 |
| Hyperreflexia | 2.803738317757009 |
| Pulmonary infiltrates | 2.803738317757009 |
| Vasculitis | 2.803738317757009 |
| Avascular necrosis | 2.803738317757009 |
| Cholecystitis | 2.803738317757009 |
| Esophageal varix | 2.803738317757009 |
| Gastrointestinal infarctions | 2.803738317757009 |
| Neoplasm of the pancreas | 2.803738317757009 |
| Parathyroid adenoma | 2.803738317757009 |
| Colon cancer | 2.803738317757009 |
| Adrenal pheochromocytoma | 2.803738317757009 |
| Pituitary prolactin cell adenoma | 2.803738317757009 |
| Dysarthria | 2.803738317757009 |
| Encephalopathy | 2.803738317757009 |
| Hemiplegia | 2.803738317757009 |
| Abnormal heart morphology | 2.803738317757009 |
| Increased body weight | 2.803738317757009 |
| Epicanthus | 2.803738317757009 |
| Ectopia lentis | 2.803738317757009 |
| Depressed nasal bridge | 2.803738317757009 |
| Ophthalmoplegia | 2.803738317757009 |
| Hyporeflexia | 2.803738317757009 |
| Death in infancy | 2.803738317757009 |
| Hypothermia | 2.803738317757009 |
| Epiretinal membrane | 2.803738317757009 |
| Inflammatory abnormality of the eye | 2.803738317757009 |
| Abnormal macular morphology | 2.803738317757009 |
| Abnormal retinal vascular morphology | 2.803738317757009 |
| Retinal hemorrhage | 2.803738317757009 |
| Global developmental delay | 2.803738317757009 |
| Sensory impairment | 2.803738317757009 |
| Abnormality of dental morphology | 2.803738317757009 |
| Pericardial effusion | 2.803738317757009 |
| Autism | 2.803738317757009 |
| Goiter | 2.803738317757009 |
| Cavernous hemangioma | 2.803738317757009 |
| Melanoma | 2.803738317757009 |
| Breast carcinoma | 2.803738317757009 |
| Colorectal polyposis | 2.803738317757009 |
| Inguinal hernia | 2.803738317757009 |
| Low-set ears | 2.803738317757009 |
| Iris coloboma | 2.803738317757009 |
| Hand polydactyly | 2.803738317757009 |
| Umbilical hernia | 2.803738317757009 |
| Abnormality of the nail | 2.803738317757009 |
| Finger syndactyly | 2.803738317757009 |
| Abnormality of the mediastinum | 2.803738317757009 |
| Diplopia | 2.803738317757009 |
| Neoplasm of the liver | 2.803738317757009 |
| Narrow mouth | 2.803738317757009 |
| Conductive hearing impairment | 2.803738317757009 |
| Decreased circulating antibody level | 2.803738317757009 |
| Abnormality of the menstrual cycle | 2.803738317757009 |
| Abnormality of coagulation | 2.803738317757009 |
| Abnormality of the cerebral vasculature | 2.803738317757009 |
| Abnormality of vision | 2.803738317757009 |
| Small for gestational age | 2.803738317757009 |
| Sleep disturbance | 2.803738317757009 |
| Blue sclerae | 2.803738317757009 |
| Wormian bones | 2.803738317757009 |
| Increased susceptibility to fractures | 2.803738317757009 |
| Vomiting | 2.803738317757009 |
| Episodic abdominal pain | 2.803738317757009 |
| Elevated calcitonin | 2.803738317757009 |
| Nephropathy | 2.803738317757009 |
| Pathologic fracture | 2.803738317757009 |
| Generalized muscle weakness | 2.803738317757009 |
| Thickened skin | 2.803738317757009 |
| Abnormal pleura morphology | 2.803738317757009 |
| Immunodeficiency | 2.803738317757009 |
| Hearing abnormality | 2.803738317757009 |
| Conjunctival telangiectasia | 2.803738317757009 |
| Heterochromia iridis | 2.803738317757009 |
| Emphysema | 2.803738317757009 |
| Arrhythmia | 2.803738317757009 |
| Acute leukemia | 2.803738317757009 |
| Prolonged bleeding time | 2.803738317757009 |
| Abnormal fingernail morphology | 2.803738317757009 |
| Generalized myoclonic seizure | 2.803738317757009 |
| Aortic valve calcification | 2.803738317757009 |
| Mitral valve calcification | 2.803738317757009 |
| Feeding difficulties in infancy | 2.803738317757009 |
| Sudden cardiac death | 2.803738317757009 |
| Restrictive ventilatory defect | 2.803738317757009 |
| Back pain | 2.803738317757009 |
| Ovarian neoplasm | 2.803738317757009 |
| Hepatic failure | 2.803738317757009 |
| Lethargy | 2.803738317757009 |
| Leukopenia | 2.803738317757009 |
| Budd-Chiari syndrome | 2.803738317757009 |
| Sinusitis | 2.803738317757009 |
| Neutropenia | 2.803738317757009 |
| Postural instability | 2.803738317757009 |
| Barrett esophagus | 2.803738317757009 |
| Vascular dilatation | 2.803738317757009 |
| Specific learning disability | 2.803738317757009 |
| Hypercalciuria | 2.803738317757009 |
| Primary hyperparathyroidism | 2.803738317757009 |
| Parathyroid hyperplasia | 2.803738317757009 |
| Angiofibromas | 2.803738317757009 |
| Internal hemorrhage | 2.803738317757009 |
| Bruising susceptibility | 2.803738317757009 |
| Normocytic anemia | 2.803738317757009 |
| Hypotension | 2.803738317757009 |
| Petechiae | 1.8691588785046727 |
| Hypertrichosis | 1.8691588785046727 |
| Dolichocephaly | 1.8691588785046727 |
| Long philtrum | 1.8691588785046727 |
| Macrotia | 1.8691588785046727 |
| Wide nose | 1.8691588785046727 |
| Cutis marmorata | 1.8691588785046727 |
| Frontal bossing | 1.8691588785046727 |
| Delayed gross motor development | 1.8691588785046727 |
| Abnormal large intestine morphology | 1.8691588785046727 |
| Myopathy | 1.8691588785046727 |
| Hamartomatous polyposis | 1.8691588785046727 |
| Aortic aneurysm | 1.8691588785046727 |
| Capillary hemangioma | 1.8691588785046727 |
| Arteriovenous malformation | 1.8691588785046727 |
| Intestinal polyposis | 1.8691588785046727 |
| Oral ulcer | 1.8691588785046727 |
| Hemiparesis | 1.8691588785046727 |
| Mitral regurgitation | 1.8691588785046727 |
| Pleuritis | 1.8691588785046727 |
| Growth hormone excess | 1.8691588785046727 |
| Multiple lentigines | 1.8691588785046727 |
| Hirsutism | 1.8691588785046727 |
| Recurrent paroxysmal headache | 1.8691588785046727 |
| Hypertension associated with pheochromocytoma | 1.8691588785046727 |
| Increased circulating cortisol level | 1.8691588785046727 |
| Peripheral Schwannoma | 1.8691588785046727 |
| Fibroadenoma of the breast | 1.8691588785046727 |
| Pituitary growth hormone cell adenoma | 1.8691588785046727 |
| Increased urinary cortisol level | 1.8691588785046727 |
| Aphasia | 1.8691588785046727 |
| Language impairment | 1.8691588785046727 |
| Loss of consciousness | 1.8691588785046727 |
| Neurogenic bladder | 1.8691588785046727 |
| Capillary malformation | 1.8691588785046727 |
| Striae distensae | 1.8691588785046727 |
| Hypokalemia | 1.8691588785046727 |
| Panic attack | 1.8691588785046727 |
| Progressive visual loss | 1.8691588785046727 |
| Pyloric stenosis | 1.8691588785046727 |
| Vitreoretinopathy | 1.8691588785046727 |
| Lymphangioma | 1.8691588785046727 |
| Cardiac arrest | 1.8691588785046727 |
| Abnormal chorioretinal morphology | 1.8691588785046727 |
| Optic disc pallor | 1.8691588785046727 |
| Attenuation of retinal blood vessels | 1.8691588785046727 |
| Ocular hypertension | 1.8691588785046727 |
| Vitreous floaters | 1.8691588785046727 |
| Deeply set eye | 1.8691588785046727 |
| Abnormal electroretinogram | 1.8691588785046727 |
| Carious teeth | 1.8691588785046727 |
| Difficulty walking | 1.8691588785046727 |
| Reduced subcutaneous adipose tissue | 1.8691588785046727 |
| Abnormality of epiphysis morphology | 1.8691588785046727 |
| Right ventricular failure | 1.8691588785046727 |
| Exertional dyspnea | 1.8691588785046727 |
| Pulmonary edema | 1.8691588785046727 |
| Mediastinal lymphadenopathy | 1.8691588785046727 |
| Macroglossia | 1.8691588785046727 |
| Palmoplantar keratoderma | 1.8691588785046727 |
| Melanocytic nevus | 1.8691588785046727 |
| Brachydactyly | 1.8691588785046727 |
| Abnormal cerebellum morphology | 1.8691588785046727 |
| Cellular immunodeficiency | 1.8691588785046727 |
| Bone cyst | 1.8691588785046727 |
| Papilloma | 1.8691588785046727 |
| Horseshoe kidney | 1.8691588785046727 |
| Hydronephrosis | 1.8691588785046727 |
| Facial asymmetry | 1.8691588785046727 |
| Narrow nasal bridge | 1.8691588785046727 |
| Chorioretinal coloboma | 1.8691588785046727 |
| Ventricular septal defect | 1.8691588785046727 |
| Hypoplasia of the iris | 1.8691588785046727 |
| Reduced number of teeth | 1.8691588785046727 |
| Open bite | 1.8691588785046727 |
| Camptodactyly of finger | 1.8691588785046727 |
| Lower limb asymmetry | 1.8691588785046727 |
| Upper limb asymmetry | 1.8691588785046727 |
| Coarse metaphyseal trabecularization | 1.8691588785046727 |
| Recurrent hypoglycemia | 1.8691588785046727 |
| Neoplasm of the nervous system | 1.8691588785046727 |
| Prostate cancer | 1.8691588785046727 |
| Soft tissue neoplasm | 1.8691588785046727 |
| Pelvic mass | 1.8691588785046727 |
| Vaginal neoplasm | 1.8691588785046727 |
| Gingival overgrowth | 1.8691588785046727 |
| Hypertelorism | 1.8691588785046727 |
| Wide nasal bridge | 1.8691588785046727 |
| Delayed eruption of teeth | 1.8691588785046727 |
| Narrow chest | 1.8691588785046727 |
| Erysipelas | 1.8691588785046727 |
| Lymphopenia | 1.8691588785046727 |
| Increased number of teeth | 1.8691588785046727 |
| Venous malformation | 1.8691588785046727 |
| Neuroma | 1.8691588785046727 |
| Ventriculomegaly | 1.8691588785046727 |
| Abnormal eyelid morphology | 1.8691588785046727 |
| Eczema | 1.8691588785046727 |
| Edema | 1.8691588785046727 |
| Abnormal lymphocyte morphology | 1.8691588785046727 |
| Cutaneous T-cell lymphoma | 1.8691588785046727 |
| Intrauterine growth retardation | 1.8691588785046727 |
| Elevated serum creatinine | 1.8691588785046727 |
| Severely reduced visual acuity | 1.8691588785046727 |
| Joint laxity | 1.8691588785046727 |
| Metaphyseal widening | 1.8691588785046727 |
| Pancreatic adenocarcinoma | 1.8691588785046727 |
| Cervix cancer | 1.8691588785046727 |
| Neoplasm of the colon | 1.8691588785046727 |
| Nasal polyposis | 1.8691588785046727 |
| Neoplasm of the rectum | 1.8691588785046727 |
| Esophageal neoplasm | 1.8691588785046727 |
| Neoplasm of the small intestine | 1.8691588785046727 |
| Hypertensive retinopathy | 1.8691588785046727 |
| Cranial nerve compression | 1.8691588785046727 |
| Paraganglioma of head and neck | 1.8691588785046727 |
| Elevated urinary norepinephrine | 1.8691588785046727 |
| Elevated urinary epinephrine | 1.8691588785046727 |
| Retinal capillary hemangioma | 1.8691588785046727 |
| Vertebral compression fractures | 1.8691588785046727 |
| Ectropion | 1.8691588785046727 |
| Abnormal facial shape | 1.8691588785046727 |
| Lichenification | 1.8691588785046727 |
| Autistic behavior | 1.8691588785046727 |
| Corneal dystrophy | 1.8691588785046727 |
| Cerebral cortical atrophy | 1.8691588785046727 |
| Arnold-Chiari malformation | 1.8691588785046727 |
| Thick lower lip vermilion | 1.8691588785046727 |
| Coarse facial features | 1.8691588785046727 |
| Hypohidrosis | 1.8691588785046727 |
| Abnormal endocardium morphology | 1.8691588785046727 |
| Chronic pulmonary obstruction | 1.8691588785046727 |
| Increased megakaryocyte count | 1.8691588785046727 |
| Myelofibrosis | 1.8691588785046727 |
| Amaurosis fugax | 1.8691588785046727 |
| Gingival bleeding | 1.8691588785046727 |
| Joint dislocation | 1.8691588785046727 |
| Osteoarthritis | 1.8691588785046727 |
| Arthrogryposis multiplex congenita | 1.8691588785046727 |
| Hemiplegia/hemiparesis | 1.8691588785046727 |
| Ichthyosis | 1.8691588785046727 |
| Increased circulating antibody level | 1.8691588785046727 |
| Increased bone mineral density | 1.8691588785046727 |
| Elevated C-reactive protein level | 1.8691588785046727 |
| Paralysis | 1.8691588785046727 |
| Glioblastoma multiforme | 1.8691588785046727 |
| Precocious puberty | 1.8691588785046727 |
| Spinal cord tumor | 1.8691588785046727 |
| Brain neoplasm | 1.8691588785046727 |
| Metamorphopsia | 1.8691588785046727 |
| Abnormal thrombocyte morphology | 1.8691588785046727 |
| Elevated erythrocyte sedimentation rate | 1.8691588785046727 |
| Syncope | 1.8691588785046727 |
| Redundant skin | 1.8691588785046727 |
| Impotence | 1.8691588785046727 |
| Hemolytic anemia | 1.8691588785046727 |
| Deep venous thrombosis | 1.8691588785046727 |
| Mesenteric venous thrombosis | 1.8691588785046727 |
| Bronchiectasis | 1.8691588785046727 |
| Abnormality of the small intestine | 1.8691588785046727 |
| Recurrent bacterial infections | 1.8691588785046727 |
| Parotitis | 1.8691588785046727 |
| Bone marrow hypercellularity | 1.8691588785046727 |
| Atelectasis | 1.8691588785046727 |
| Verrucae | 1.8691588785046727 |
| Osteosarcoma | 1.8691588785046727 |
| Rhabdomyosarcoma | 1.8691588785046727 |
| Medulloblastoma | 1.8691588785046727 |
| Renal neoplasm | 1.8691588785046727 |
| Dystonia | 1.8691588785046727 |
| Scarring | 1.8691588785046727 |
| Pneumothorax | 1.8691588785046727 |
| Renal angiomyolipoma | 1.8691588785046727 |
| Retinal hamartoma | 1.8691588785046727 |
| Shagreen patch | 1.8691588785046727 |
| Pulmonary lymphangiomyomatosis | 1.8691588785046727 |
| Ungual fibroma | 1.8691588785046727 |
| Microscopic hematuria | 1.8691588785046727 |
| Hypoalbuminemia | 1.8691588785046727 |
| Stage 5 chronic kidney disease | 1.8691588785046727 |
| Decreased serum complement C3 | 1.8691588785046727 |
| Prominent occiput | 1.8691588785046727 |
| Full cheeks | 1.8691588785046727 |
| Hyperextensible skin | 1.8691588785046727 |
| Bowing of the long bones | 1.8691588785046727 |
| Spontaneous hematomas | 1.8691588785046727 |
| Prostatitis | 1.8691588785046727 |
| Elevated urinary catecholamines | 1.8691588785046727 |
| Intellectual disability, mild | 1.8691588785046727 |
| Skeletal dysplasia | 1.8691588785046727 |
| Abnormality of retinal pigmentation | 1.8691588785046727 |
| Tinnitus | 1.8691588785046727 |
| Amblyopia | 1.8691588785046727 |
| Hyperpigmentation of the skin | 1.8691588785046727 |
| Remnants of the hyaloid vascular system | 1.8691588785046727 |
| Facial palsy | 1.8691588785046727 |
| Thin vermilion border | 1.8691588785046727 |
| Hypertonia | 1.8691588785046727 |
| Self-injurious behavior | 1.8691588785046727 |
| Short attention span | 1.8691588785046727 |
| Coma | 1.8691588785046727 |
| Zollinger-Ellison syndrome | 1.8691588785046727 |
| Confetti-like hypopigmented macules | 1.8691588785046727 |
| Elevated alkaline phosphatase | 1.8691588785046727 |
| Varicose veins | 1.8691588785046727 |
| Premature birth | 1.8691588785046727 |
| Hyperbilirubinemia | 1.8691588785046727 |
| Increased serum bile acid concentration | 1.8691588785046727 |
| Insomnia | 1.8691588785046727 |
| Portal vein thrombosis | 1.8691588785046727 |
| Pituitary adenoma | 1.8691588785046727 |
| Neoplasm of the adrenal gland | 1.8691588785046727 |
| Epidermoid cyst | 1.8691588785046727 |
| Normochromic anemia | 1.8691588785046727 |
| Dysplastic granulopoesis | 1.8691588785046727 |
| Chronic infection | 1.8691588785046727 |
| Nephrocalcinosis | 1.8691588785046727 |
| Angioid streaks of the fundus | 1.8691588785046727 |
| Flexion contracture | 1.8691588785046727 |
| Respiratory distress | 1.8691588785046727 |
| Microcytic anemia | 1.8691588785046727 |
| Hepatic steatosis | 1.8691588785046727 |
| Generalized hirsutism | 1.8691588785046727 |
| Cleft palate | 1.8691588785046727 |
| Uveitis | 1.8691588785046727 |
| Abnormal cardiac ventricular function | 1.8691588785046727 |
| Respiratory failure | 1.8691588785046727 |
| Aggressive behavior | 1.8691588785046727 |
| Generalized abnormality of skin | 1.8691588785046727 |
| Macrocytic anemia | 1.8691588785046727 |
| Malnutrition | 1.8691588785046727 |
| Hemangioma | 1.8691588785046727 |
| Single lineage myelodysplasia | 1.8691588785046727 |
| Polycythemia | 1.8691588785046727 |
| Tractional retinal detachment | 1.8691588785046727 |
| Macular edema | 1.8691588785046727 |
| Myocarditis | 1.8691588785046727 |
| Gastrointestinal dysmotility | 1.8691588785046727 |
| Cerebral amyloid angiopathy | 0.9345794392523363 |
| Death in early adulthood | 0.9345794392523363 |
| Facial hemangioma | 0.9345794392523363 |
| Esotropia | 0.9345794392523363 |
| Megakaryocytopenia | 0.9345794392523363 |
| Localized skin lesion | 0.9345794392523363 |
| Hypofibrinogenemia | 0.9345794392523363 |
| Hemangioma of the lip | 0.9345794392523363 |
| Narrow palate | 0.9345794392523363 |
| Hashimoto thyroiditis | 0.9345794392523363 |
| Subcutaneous hemorrhage | 0.9345794392523363 |
| Short nose | 0.9345794392523363 |
| Nevus | 0.9345794392523363 |
| Abdominal wall muscle weakness | 0.9345794392523363 |
| Broad thumb | 0.9345794392523363 |
| Neoplasm of the breast | 0.9345794392523363 |
| Neoplasm of the adrenal cortex | 0.9345794392523363 |
| Aortic regurgitation | 0.9345794392523363 |
| Encephalitis | 0.9345794392523363 |
| Abnormal pyramidal sign | 0.9345794392523363 |
| Recurrent aphthous stomatitis | 0.9345794392523363 |
| Immunologic hypersensitivity | 0.9345794392523363 |
| Endocarditis | 0.9345794392523363 |
| Myositis | 0.9345794392523363 |
| Retrobulbar optic neuritis | 0.9345794392523363 |
| Orchitis | 0.9345794392523363 |
| Peritonitis | 0.9345794392523363 |
| Thyroid adenoma | 0.9345794392523363 |
| Cafe-au-lait spot | 0.9345794392523363 |
| Pigmented micronodular adrenocortical disease | 0.9345794392523363 |
| Red hair | 0.9345794392523363 |
| Profuse pigmented skin lesions | 0.9345794392523363 |
| Pigmentation of the sclera | 0.9345794392523363 |
| Thyroid follicular hyperplasia | 0.9345794392523363 |
| Vestibular Schwannoma | 0.9345794392523363 |
| Abnormality of circulating adrenocorticotropin level | 0.9345794392523363 |
| Cardiac myxoma | 0.9345794392523363 |
| Hepatocellular adenoma | 0.9345794392523363 |
| Histiocytoma | 0.9345794392523363 |
| Osteochondroma | 0.9345794392523363 |
| Abnormal prolactin level | 0.9345794392523363 |
| Sertoli cell neoplasm | 0.9345794392523363 |
| Bronchogenic cyst | 0.9345794392523363 |
| Blue nevus | 0.9345794392523363 |
| Apathy | 0.9345794392523363 |
| Parkinsonism | 0.9345794392523363 |
| Migraine with aura | 0.9345794392523363 |
| Motor deterioration | 0.9345794392523363 |
| Leukoencephalopathy | 0.9345794392523363 |
| Recurrent subcortical infarcts | 0.9345794392523363 |
| Impaired visuospatial constructive cognition | 0.9345794392523363 |
| Stress urinary incontinence | 0.9345794392523363 |
| Brain atrophy | 0.9345794392523363 |
| Bradyphrenia | 0.9345794392523363 |
| Lacunar stroke | 0.9345794392523363 |
| Multifocal hyperintensity of cerebral white matter on MRI | 0.9345794392523363 |
| Facial capillary hemangioma | 0.9345794392523363 |
| High-output congestive heart failure | 0.9345794392523363 |
| Nonimmune hydrops fetalis | 0.9345794392523363 |
| Cerebral arteriovenous malformation | 0.9345794392523363 |
| Functional motor deficit | 0.9345794392523363 |
| Abnormality of the musculature of the limbs | 0.9345794392523363 |
| Hypopigmented macule | 0.9345794392523363 |
| Vein of Galen aneurysmal malformation | 0.9345794392523363 |
| Abnormality of the lymphatic system | 0.9345794392523363 |
| Abnormality of reproductive system physiology | 0.9345794392523363 |
| Hyperaldosteronism | 0.9345794392523363 |
| Abnormality of urine homeostasis | 0.9345794392523363 |
| Paradoxical increased cortisol secretion on dexamethasone suppression test | 0.9345794392523363 |
| Adrenocorticotropic hormone deficiency | 0.9345794392523363 |
| Increased serum estradiol | 0.9345794392523363 |
| Increased serum androstenedione | 0.9345794392523363 |
| Elevated serum 11-deoxycortisol | 0.9345794392523363 |
| Lung adenocarcinoma | 0.9345794392523363 |
| Abnormal serum dehydroepiandrosterone level | 0.9345794392523363 |
| Vesicoureteral reflux | 0.9345794392523363 |
| Macular degeneration | 0.9345794392523363 |
| Calvarial skull defect | 0.9345794392523363 |
| Abnormal hair morphology | 0.9345794392523363 |
| Dextrocardia | 0.9345794392523363 |
| Occipital encephalocele | 0.9345794392523363 |
| Midface retrusion | 0.9345794392523363 |
| Bifid ureter | 0.9345794392523363 |
| Scrotal hypoplasia | 0.9345794392523363 |
| Ambiguous genitalia | 0.9345794392523363 |
| Myoclonus | 0.9345794392523363 |
| Growth delay | 0.9345794392523363 |
| Hypoplasia of penis | 0.9345794392523363 |
| Sleep apnea | 0.9345794392523363 |
| Abnormal autonomic nervous system physiology | 0.9345794392523363 |
| Blurred vision | 0.9345794392523363 |
| Cystoid macular edema | 0.9345794392523363 |
| Choroidal neovascularization | 0.9345794392523363 |
| Macular hole | 0.9345794392523363 |
| Vitritis | 0.9345794392523363 |
| Retinal thinning | 0.9345794392523363 |
| Arcuate scotoma | 0.9345794392523363 |
| Photoreceptor layer loss on macular OCT | 0.9345794392523363 |
| Blind-spot enlargment | 0.9345794392523363 |
| Macular scar | 0.9345794392523363 |
| Abnormal anterior chamber morphology | 0.9345794392523363 |
| Aplasia/Hypoplasia of the iris | 0.9345794392523363 |
| Urinary incontinence | 0.9345794392523363 |
| Renal hypoplasia | 0.9345794392523363 |
| Unilateral renal agenesis | 0.9345794392523363 |
| Progressive microcephaly | 0.9345794392523363 |
| Progressive sensorineural hearing impairment | 0.9345794392523363 |
| Convex nasal ridge | 0.9345794392523363 |
| Developmental cataract | 0.9345794392523363 |
| Alacrima | 0.9345794392523363 |
| Hypermetropia | 0.9345794392523363 |
| Retinal dystrophy | 0.9345794392523363 |
| Pigmentary retinopathy | 0.9345794392523363 |
| Band keratopathy | 0.9345794392523363 |
| Miosis | 0.9345794392523363 |
| Delayed eruption of primary teeth | 0.9345794392523363 |
| Dental malocclusion | 0.9345794392523363 |
| Decreased nerve conduction velocity | 0.9345794392523363 |
| Anhidrosis | 0.9345794392523363 |
| Cutaneous photosensitivity | 0.9345794392523363 |
| Retinal atrophy | 0.9345794392523363 |
| Mental deterioration | 0.9345794392523363 |
| Cerebellar atrophy | 0.9345794392523363 |
| Areflexia | 0.9345794392523363 |
| Absent speech | 0.9345794392523363 |
| Weak cry | 0.9345794392523363 |
| High-frequency sensorineural hearing impairment | 0.9345794392523363 |
| Cerebral atrophy | 0.9345794392523363 |
| Intention tremor | 0.9345794392523363 |
| Basal ganglia calcification | 0.9345794392523363 |
| Hyperuricemia | 0.9345794392523363 |
| Gliosis | 0.9345794392523363 |
| Fine hair | 0.9345794392523363 |
| Dense calcifications in the cerebellar dentate nucleus | 0.9345794392523363 |
| Limb hypertonia | 0.9345794392523363 |
| Inability to walk | 0.9345794392523363 |
| Patchy demyelination of subcortical white matter | 0.9345794392523363 |
| Thickened calvaria | 0.9345794392523363 |
| Congenital contracture | 0.9345794392523363 |
| Peripheral axonal neuropathy | 0.9345794392523363 |
| Severe short stature | 0.9345794392523363 |
| Vascular calcification | 0.9345794392523363 |
| Contractures of the large joints | 0.9345794392523363 |
| Hypoplasia of dental enamel | 0.9345794392523363 |
| Agenesis of permanent teeth | 0.9345794392523363 |
| Demyelinating peripheral neuropathy | 0.9345794392523363 |
| Sensorimotor neuropathy | 0.9345794392523363 |
| Progressive gait ataxia | 0.9345794392523363 |
| Cerebral dysmyelination | 0.9345794392523363 |
| Subcortical white matter calcifications | 0.9345794392523363 |
| Retinal arteriolar constriction | 0.9345794392523363 |
| Absence of pubertal development | 0.9345794392523363 |
| Postnatal growth retardation | 0.9345794392523363 |
| Muscular hypotonia of the trunk | 0.9345794392523363 |
| Dry hair | 0.9345794392523363 |
| Congenital microcephaly | 0.9345794392523363 |
| Gastrostomy tube feeding in infancy | 0.9345794392523363 |
| Lentiglobus | 0.9345794392523363 |
| Corneal ulceration | 0.9345794392523363 |
| Malar rash | 0.9345794392523363 |
| Stooped posture | 0.9345794392523363 |
| Premature skin wrinkling | 0.9345794392523363 |
| Cyanosis | 0.9345794392523363 |
| Elevated pulmonary artery pressure | 0.9345794392523363 |
| Pulmonary capillary hemangiomatosis | 0.9345794392523363 |
| Hemothorax | 0.9345794392523363 |
| Hypoxemia | 0.9345794392523363 |
| Centrilobular ground-glass opacification on pulmonary HRCT | 0.9345794392523363 |
| Diffuse alveolar hemorrhage | 0.9345794392523363 |
| Interlobular septal thickening on pulmonary HRCT | 0.9345794392523363 |
| Abnormal pulmonary vein morphology | 0.9345794392523363 |
| Decreased DLCO | 0.9345794392523363 |
| Clubbing of fingers | 0.9345794392523363 |
| Abnormal penis morphology | 0.9345794392523363 |
| Furrowed tongue | 0.9345794392523363 |
| Gynecomastia | 0.9345794392523363 |
| Generalized hyperkeratosis | 0.9345794392523363 |
| Follicular thyroid carcinoma | 0.9345794392523363 |
| Adenoma sebaceum | 0.9345794392523363 |
| Endometrial carcinoma | 0.9345794392523363 |
| Mucosal telangiectasiae | 0.9345794392523363 |
| Conjunctival hamartoma | 0.9345794392523363 |
| Multicystic kidney dysplasia | 0.9345794392523363 |
| Pointed chin | 0.9345794392523363 |
| Abnormality of the middle ear | 0.9345794392523363 |
| Abnormality of dental enamel | 0.9345794392523363 |
| Short ribs | 0.9345794392523363 |
| Congenital diaphragmatic hernia | 0.9345794392523363 |
| Short clavicles | 0.9345794392523363 |
| Thin skin | 0.9345794392523363 |
| Abnormal palmar dermatoglyphics | 0.9345794392523363 |
| Split hand | 0.9345794392523363 |
| Omphalocele | 0.9345794392523363 |
| Diastasis recti | 0.9345794392523363 |
| Toe syndactyly | 0.9345794392523363 |
| Split foot | 0.9345794392523363 |
| Duodenal atresia | 0.9345794392523363 |
| Spina bifida | 0.9345794392523363 |
| Dermal atrophy | 0.9345794392523363 |
| Abnormality of the pulmonary vasculature | 0.9345794392523363 |
| Aplasia/Hypoplasia of the lungs | 0.9345794392523363 |
| Renal hypoplasia/aplasia | 0.9345794392523363 |
| Hypoplastic pelvis | 0.9345794392523363 |
| Abnormal adipose tissue morphology | 0.9345794392523363 |
| Giant cell tumor of bone | 0.9345794392523363 |
| Urinary retention | 0.9345794392523363 |
| Abnormality of the forehead | 0.9345794392523363 |
| Abnormality of the peritoneum | 0.9345794392523363 |
| Low back pain | 0.9345794392523363 |
| Hypophosphatemic rickets | 0.9345794392523363 |
| Night sweats | 0.9345794392523363 |
| Reduced C-peptide level | 0.9345794392523363 |
| Hypoinsulinemia | 0.9345794392523363 |
| Neoplasia of the pleura | 0.9345794392523363 |
| Microangiopathic hemolytic anemia | 0.9345794392523363 |
| Decreased serum complement factor I | 0.9345794392523363 |
| Decreased serum complement factor B | 0.9345794392523363 |
| Decreased level of thrombomodulin | 0.9345794392523363 |
| Abnormal lactate dehydrogenase level | 0.9345794392523363 |
| Ectopic kidney | 0.9345794392523363 |
| Retrognathia | 0.9345794392523363 |
| Short philtrum | 0.9345794392523363 |
| Broad forehead | 0.9345794392523363 |
| Pachygyria | 0.9345794392523363 |
| Craniosynostosis | 0.9345794392523363 |
| Mild postnatal growth retardation | 0.9345794392523363 |
| Abnormal foot morphology | 0.9345794392523363 |
| Sparse axillary hair | 0.9345794392523363 |
| Hypocalcemia | 0.9345794392523363 |
| Pulmonary lymphangiectasia | 0.9345794392523363 |
| External ear malformation | 0.9345794392523363 |
| Flat face | 0.9345794392523363 |
| Benign neoplasm of the central nervous system | 0.9345794392523363 |
| Episodic vomiting | 0.9345794392523363 |
| Choroidal hemangioma | 0.9345794392523363 |
| Vascular skin abnormality | 0.9345794392523363 |
| Retinal cavernous angioma | 0.9345794392523363 |
| Focal T2 hyperintense brainstem lesion | 0.9345794392523363 |
| Focal T2 hypointense brainstem lesion | 0.9345794392523363 |
| Spinal cord lesion | 0.9345794392523363 |
| Hand oligodactyly | 0.9345794392523363 |
| Tricuspid valve prolapse | 0.9345794392523363 |
| Macrodactyly | 0.9345794392523363 |
| Hyperpigmented nevi | 0.9345794392523363 |
| Hemihypertrophy of lower limb | 0.9345794392523363 |
| Hemihypertrophy of upper limb | 0.9345794392523363 |
| Large face | 0.9345794392523363 |
| Poikiloderma | 0.9345794392523363 |
| Abnormality of bone marrow cell morphology | 0.9345794392523363 |
| Polycystic ovaries | 0.9345794392523363 |
| Elevated systolic blood pressure | 0.9345794392523363 |
| Elevated diastolic blood pressure | 0.9345794392523363 |
| Helicobacter pylori infection | 0.9345794392523363 |
| Abnormality of the hepatic vasculature | 0.9345794392523363 |
| Increased body mass index | 0.9345794392523363 |
| Type I diabetes mellitus | 0.9345794392523363 |
| Abnormal placenta morphology | 0.9345794392523363 |
| Preauricular skin tag | 0.9345794392523363 |
| Delayed speech and language development | 0.9345794392523363 |
| Waddling gait | 0.9345794392523363 |
| Abnormal femoral neck/head morphology | 0.9345794392523363 |
| Crumpled long bones | 0.9345794392523363 |
| Congenital nystagmus | 0.9345794392523363 |
| Loss of ability to walk | 0.9345794392523363 |
| Congenital blindness | 0.9345794392523363 |
| Exudative retinopathy | 0.9345794392523363 |
| Isosexual precocious puberty | 0.9345794392523363 |
| Infantile muscular hypotonia | 0.9345794392523363 |
| Low serum calcitriol | 0.9345794392523363 |
| Angle closure glaucoma | 0.9345794392523363 |
| Exudative vitreoretinopathy | 0.9345794392523363 |
| Moderately reduced visual acuity | 0.9345794392523363 |
| Visual acuity light perception with projection | 0.9345794392523363 |
| Abnormality of cardiovascular system morphology | 0.9345794392523363 |
| Abnormality of the ureter | 0.9345794392523363 |
| Rectal prolapse | 0.9345794392523363 |
| Gastrointestinal carcinoma | 0.9345794392523363 |
| Abnormality of the gallbladder | 0.9345794392523363 |
| Neoplasm of the nose | 0.9345794392523363 |
| Biliary tract neoplasm | 0.9345794392523363 |
| Melanonychia | 0.9345794392523363 |
| Abnormal pigmentation of the oral mucosa | 0.9345794392523363 |
| Glomerular sclerosis | 0.9345794392523363 |
| Aniridia | 0.9345794392523363 |
| Episodic paroxysmal anxiety | 0.9345794392523363 |
| Episodic hyperhidrosis | 0.9345794392523363 |
| Vocal cord paralysis | 0.9345794392523363 |
| Dysphonia | 0.9345794392523363 |
| Positive regitine blocking test | 0.9345794392523363 |
| Extraadrenal pheochromocytoma | 0.9345794392523363 |
| Pulsatile tinnitus | 0.9345794392523363 |
| Paroxysmal vertigo | 0.9345794392523363 |
| Sinus tachycardia | 0.9345794392523363 |
| Elevated urinary dopamine | 0.9345794392523363 |
| Arachnoid hemangiomatosis | 0.9345794392523363 |
| Flushing | 0.9345794392523363 |
| Abnormality of the bladder | 0.9345794392523363 |
| Hyperproteinemia | 0.9345794392523363 |
| Spinal cord compression | 0.9345794392523363 |
| Increased circulating IgG level | 0.9345794392523363 |
| Increased circulating IgA level | 0.9345794392523363 |
| Abnormality of vitamin B12 metabolism | 0.9345794392523363 |
| Functional abnormality of the gastrointestinal tract | 0.9345794392523363 |
| Fibrosarcoma | 0.9345794392523363 |
| Erythroderma | 0.9345794392523363 |
| Nail dystrophy | 0.9345794392523363 |
| Abnormal immunoglobulin level | 0.9345794392523363 |
| Abnormal choroid morphology | 0.9345794392523363 |
| Hemianopia | 0.9345794392523363 |
| Hyperostosis | 0.9345794392523363 |
| Abnormal renal tubule morphology | 0.9345794392523363 |
| Angiokeratoma | 0.9345794392523363 |
| Hypertrophic cardiomyopathy | 0.9345794392523363 |
| Abnormal aortic valve morphology | 0.9345794392523363 |
| Atrioventricular block | 0.9345794392523363 |
| Left ventricular hypertrophy | 0.9345794392523363 |
| Achalasia | 0.9345794392523363 |
| Abnormality of femur morphology | 0.9345794392523363 |
| Hyperlipidemia | 0.9345794392523363 |
| Bundle branch block | 0.9345794392523363 |
| Abnormal platelet morphology | 0.9345794392523363 |
| Limitation of joint mobility | 0.9345794392523363 |
| Hallux valgus | 0.9345794392523363 |
| Spinal rigidity | 0.9345794392523363 |
| Abnormal vertebral morphology | 0.9345794392523363 |
| Clinodactyly of the 5th finger | 0.9345794392523363 |
| Abnormality of the first metatarsal bone | 0.9345794392523363 |
| Aplasia/Hypoplasia of the phalanges of the hallux | 0.9345794392523363 |
| Short hallux | 0.9345794392523363 |
| Ectopic ossification in muscle tissue | 0.9345794392523363 |
| Ectopic ossification in ligament tissue | 0.9345794392523363 |
| Synostosis of joints | 0.9345794392523363 |
| Hypoparathyroidism | 0.9345794392523363 |
| Chronic mucocutaneous candidiasis | 0.9345794392523363 |
| Decreased circulating aldosterone level | 0.9345794392523363 |
| Opacification of the corneal stroma | 0.9345794392523363 |
| Adrenal hyperplasia | 0.9345794392523363 |
| Abnormal calcium-phosphate regulating hormone level | 0.9345794392523363 |
| Oculomotor apraxia | 0.9345794392523363 |
| Abnormal pericardium morphology | 0.9345794392523363 |
| Bilateral tonic-clonic seizure | 0.9345794392523363 |
| Abnormality of extrapyramidal motor function | 0.9345794392523363 |
| Cherry red spot of the macula | 0.9345794392523363 |
| Hepatitis | 0.9345794392523363 |
| Abnormal corpus callosum morphology | 0.9345794392523363 |
| Cerebral edema | 0.9345794392523363 |
| Abnormal cell morphology | 0.9345794392523363 |
| Conjunctivitis | 0.9345794392523363 |
| Entropion | 0.9345794392523363 |
| Abnormality of the urethra | 0.9345794392523363 |
| Abnormality of neutrophils | 0.9345794392523363 |
| Hypokalemic metabolic alkalosis | 0.9345794392523363 |
| Esophageal stricture | 0.9345794392523363 |
| Excessive salivation | 0.9345794392523363 |
| Dyspareunia | 0.9345794392523363 |
| Dysuria | 0.9345794392523363 |
| Acantholysis | 0.9345794392523363 |
| Corneal erosion | 0.9345794392523363 |
| Torticollis | 0.9345794392523363 |
| Abnormal scalp morphology | 0.9345794392523363 |
| Elevated alpha-fetoprotein | 0.9345794392523363 |
| Lower limb muscle weakness | 0.9345794392523363 |
| Abnormality of the superior cerebellar peduncle | 0.9345794392523363 |
| Upper limb pain | 0.9345794392523363 |
| Peripheral primitive neuroectodermal neoplasm | 0.9345794392523363 |
| Elevated carcinoma antigen 125 level | 0.9345794392523363 |
| Metrorrhagia | 0.9345794392523363 |
| Abnormal thoracic spine morphology | 0.9345794392523363 |
| Neoplasm of the scrotum | 0.9345794392523363 |
| Abnormality of refraction | 0.9345794392523363 |
| Inferior lens subluxation | 0.9345794392523363 |
| Zonular cataract | 0.9345794392523363 |
| Mydriasis | 0.9345794392523363 |
| Iris melanoma | 0.9345794392523363 |
| Choroidal melanoma | 0.9345794392523363 |
| Ciliary body melanoma | 0.9345794392523363 |
| Photopsia | 0.9345794392523363 |
| Abnormal visual accommodation | 0.9345794392523363 |
| Ocular pain | 0.9345794392523363 |
| Glossitis | 0.9345794392523363 |
| Ptosis | 0.9345794392523363 |
| Ophthalmoparesis | 0.9345794392523363 |
| Visual field defect | 0.9345794392523363 |
| Aortic dissection | 0.9345794392523363 |
| Abdominal aortic aneurysm | 0.9345794392523363 |
| Impaired mastication | 0.9345794392523363 |
| Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis | 0.9345794392523363 |
| Recurrent pharyngitis | 0.9345794392523363 |
| Right ventricular dilatation | 0.9345794392523363 |
| Tricuspid regurgitation | 0.9345794392523363 |
| Heart murmur | 0.9345794392523363 |
| Elevated jugular venous pressure | 0.9345794392523363 |
| Rod-cone dystrophy | 0.9345794392523363 |
| Nyctalopia | 0.9345794392523363 |
| Increased number of skin folds | 0.9345794392523363 |
| Absent retinal pigment epithelium | 0.9345794392523363 |
| Thromboembolism | 0.9345794392523363 |
| Reticulocytosis | 0.9345794392523363 |
| Renal Fanconi syndrome | 0.9345794392523363 |
| Glycosuria | 0.9345794392523363 |
| Increased blood urea nitrogen | 0.9345794392523363 |
| Hemoglobinuria | 0.9345794392523363 |
| Unconjugated hyperbilirubinemia | 0.9345794392523363 |
| Erythroid hyperplasia | 0.9345794392523363 |
| Hemosiderinuria | 0.9345794392523363 |
| Reduced haptoglobin level | 0.9345794392523363 |
| Esophageal spasms | 0.9345794392523363 |
| Asthenia | 0.9345794392523363 |
| Abnormal erythrocyte enzyme level | 0.9345794392523363 |
| Odynophagia | 0.9345794392523363 |
| Conjunctival icterus | 0.9345794392523363 |
| Decreased serum iron | 0.9345794392523363 |
| Abnormality of the liver | 0.9345794392523363 |
| Neoplasm of the stomach | 0.9345794392523363 |
| Gastrointestinal stroma tumor | 0.9345794392523363 |
| Severe periodontitis | 0.9345794392523363 |
| Otitis media | 0.9345794392523363 |
| Vitiligo | 0.9345794392523363 |
| Tetralogy of Fallot | 0.9345794392523363 |
| Limb ataxia | 0.9345794392523363 |
| Recurrent upper respiratory tract infections | 0.9345794392523363 |
| Lymphadenitis | 0.9345794392523363 |
| Recurrent pneumonia | 0.9345794392523363 |
| Poor fine motor coordination | 0.9345794392523363 |
| Abnormality of neutrophil morphology | 0.9345794392523363 |
| Cutaneous melanoma | 0.9345794392523363 |
| Pharyngitis | 0.9345794392523363 |
| Myelokathexis | 0.9345794392523363 |
| Abnormal basophil morphology | 0.9345794392523363 |
| Myeloproliferative disorder | 0.9345794392523363 |
| Uterine leiomyoma | 0.9345794392523363 |
| Uterine leiomyosarcoma | 0.9345794392523363 |
| Abnormality of the musculature | 0.9345794392523363 |
| Papillary renal cell carcinoma type 2 | 0.9345794392523363 |
| Multiple cutaneous leiomyomas | 0.9345794392523363 |
| Cutaneous leiomyoma | 0.9345794392523363 |
| Acute lymphoblastic leukemia | 0.9345794392523363 |
| Testicular neoplasm | 0.9345794392523363 |
| Hodgkin lymphoma | 0.9345794392523363 |
| Neoplasm of head and neck | 0.9345794392523363 |
| Non-Hodgkin lymphoma | 0.9345794392523363 |
| Central primitive neuroectodermal tumor | 0.9345794392523363 |
| Choroid plexus carcinoma | 0.9345794392523363 |
| Neoplasm of the larynx | 0.9345794392523363 |
| Choriocarcinoma | 0.9345794392523363 |
| Abnormality of the gingiva | 0.9345794392523363 |
| Microglossia | 0.9345794392523363 |
| Tongue nodules | 0.9345794392523363 |
| Hoarse voice | 0.9345794392523363 |
| Alopecia of scalp | 0.9345794392523363 |
| Pustule | 0.9345794392523363 |
| Abnormal morphology of female internal genitalia | 0.9345794392523363 |
| Chylopericardium | 0.9345794392523363 |
| Abnormal urinary color | 0.9345794392523363 |
| Abnormal thrombosis | 0.9345794392523363 |
| Glomerular subendothelial electron-dense deposits | 0.9345794392523363 |
| Drusen | 0.9345794392523363 |
| C3 nephritic factor positivity | 0.9345794392523363 |
| Bladder diverticulum | 0.9345794392523363 |
| Abnormal palate morphology | 0.9345794392523363 |
| Mask-like facies | 0.9345794392523363 |
| Chondrocalcinosis | 0.9345794392523363 |
| Abnormality of the metaphysis | 0.9345794392523363 |
| Atypical scarring of skin | 0.9345794392523363 |
| Chorea | 0.9345794392523363 |
| Woolly hair | 0.9345794392523363 |
| Abnormal carotid artery morphology | 0.9345794392523363 |
| Hypopigmentation of hair | 0.9345794392523363 |
| Prolonged neonatal jaundice | 0.9345794392523363 |
| Sparse hair | 0.9345794392523363 |
| Tarsal synostosis | 0.9345794392523363 |
| Aplasia/Hypoplasia of the abdominal wall musculature | 0.9345794392523363 |
| Exostoses | 0.9345794392523363 |
| Abnormality of the nose | 0.9345794392523363 |
| Coronary artery calcification | 0.9345794392523363 |
| Aminoaciduria | 0.9345794392523363 |
| Thickened Achilles tendon | 0.9345794392523363 |
| Intervertebral disk calcification | 0.9345794392523363 |
| Tendon rupture | 0.9345794392523363 |
| Calcification of cartilage | 0.9345794392523363 |
| Cartilage destruction | 0.9345794392523363 |
| Freckling | 0.9345794392523363 |
| Abnormality of the respiratory system | 0.9345794392523363 |
| Genu valgum | 0.9345794392523363 |
| Genu varum | 0.9345794392523363 |
| Slender long bone | 0.9345794392523363 |
| Abnormality of the hip bone | 0.9345794392523363 |
| Chronic myelogenous leukemia | 0.9345794392523363 |
| Neoplasm of the gastrointestinal tract | 0.9345794392523363 |
| Generalized hyperpigmentation | 0.9345794392523363 |
| Plexiform neurofibroma | 0.9345794392523363 |
| Spinal neurofibromas | 0.9345794392523363 |
| Lisch nodules | 0.9345794392523363 |
| Urinary tract neoplasm | 0.9345794392523363 |
| Abnormality of the upper urinary tract | 0.9345794392523363 |
| Abnormal hair quantity | 0.9345794392523363 |
| Polyneuropathy | 0.9345794392523363 |
| Myelopathy | 0.9345794392523363 |
| Unsteady gait | 0.9345794392523363 |
| Brain stem compression | 0.9345794392523363 |
| Posterior subcapsular cataract | 0.9345794392523363 |
| Foot dorsiflexor weakness | 0.9345794392523363 |
| Bilateral vestibular Schwannoma | 0.9345794392523363 |
| Mononeuropathy | 0.9345794392523363 |
| Wrist drop | 0.9345794392523363 |
| Intracranial meningioma | 0.9345794392523363 |
| Spinal meningioma | 0.9345794392523363 |
| Cortical cataract | 0.9345794392523363 |
| Hyperesthesia | 0.9345794392523363 |
| Increased circulating gonadotropin level | 0.9345794392523363 |
| Generalized edema | 0.9345794392523363 |
| Hypovolemia | 0.9345794392523363 |
| Peripheral edema | 0.9345794392523363 |
| Hemorrhagic ovarian cyst | 0.9345794392523363 |
| Capillary leak | 0.9345794392523363 |
| Increased serum testosterone level | 0.9345794392523363 |
| Malar flattening | 0.9345794392523363 |
| Abnormal cochlea morphology | 0.9345794392523363 |
| Protruding ear | 0.9345794392523363 |
| Hypotelorism | 0.9345794392523363 |
| Abnormal pupil morphology | 0.9345794392523363 |
| Sclerocornea | 0.9345794392523363 |
| Psychosis | 0.9345794392523363 |
| Stereotypy | 0.9345794392523363 |
| Hallucinations | 0.9345794392523363 |
| Clonus | 0.9345794392523363 |
| EEG abnormality | 0.9345794392523363 |
| Intellectual disability, progressive | 0.9345794392523363 |
| Aplasia/Hypoplasia of the cerebellum | 0.9345794392523363 |
| Anterior chamber synechiae | 0.9345794392523363 |
| Aplasia/Hypoplasia of the lens | 0.9345794392523363 |
| Abnormality of the diencephalon | 0.9345794392523363 |
| Abnormality of immune system physiology | 0.9345794392523363 |
| Abnormality of the helix | 0.9345794392523363 |
| Neoplasm of the eye | 0.9345794392523363 |
| Erectile dysfunction | 0.9345794392523363 |
| Uterine rupture | 0.9345794392523363 |
| Vascular neoplasm | 0.9345794392523363 |
| Polymicrogyria | 0.9345794392523363 |
| Enlarged cerebellum | 0.9345794392523363 |
| Trichilemmoma | 0.9345794392523363 |
| Neoplasm of the thyroid gland | 0.9345794392523363 |
| Acrokeratosis | 0.9345794392523363 |
| Amenorrhea | 0.9345794392523363 |
| Gingival fibromatosis | 0.9345794392523363 |
| Adrenocortical abnormality | 0.9345794392523363 |
| Primary hypercortisolism | 0.9345794392523363 |
| Dehydration | 0.9345794392523363 |
| Hematemesis | 0.9345794392523363 |
| Melena | 0.9345794392523363 |
| Duodenal ulcer | 0.9345794392523363 |
| Increased serum serotonin | 0.9345794392523363 |
| Peptic ulcer | 0.9345794392523363 |
| Large cafe-au-lait macules with irregular margins | 0.9345794392523363 |
| Intestinal carcinoid | 0.9345794392523363 |
| Parathyroid carcinoma | 0.9345794392523363 |
| Pituitary corticotropic cell adenoma | 0.9345794392523363 |
| Atypical absence status epilepticus | 0.9345794392523363 |
| Proportionate tall stature | 0.9345794392523363 |
| Pituitary gonadotropic cell adenoma | 0.9345794392523363 |
| Pituitary null cell adenoma | 0.9345794392523363 |
| Pituitary thyrotropic cell adenoma | 0.9345794392523363 |
| Insulinoma | 0.9345794392523363 |
| Shortened QT interval | 0.9345794392523363 |
| Glucagonoma | 0.9345794392523363 |
| Pulmonary carcinoid tumor | 0.9345794392523363 |
| Impairment of activities of daily living | 0.9345794392523363 |
| Decreased vigilance | 0.9345794392523363 |
| Abnormal circulating aldosterone | 0.9345794392523363 |
| Decreased male libido | 0.9345794392523363 |
| Thymoma | 0.9345794392523363 |
| Galactorrhea | 0.9345794392523363 |
| Hypergastrinemia | 0.9345794392523363 |
| Disproportionate tall stature | 0.9345794392523363 |
| Aganglionic megacolon | 0.9345794392523363 |
| Kyphoscoliosis | 0.9345794392523363 |
| Medullary thyroid carcinoma | 0.9345794392523363 |
| Elevated circulating parathyroid hormone level | 0.9345794392523363 |
| Hyperlordosis | 0.9345794392523363 |
| Proximal amyotrophy | 0.9345794392523363 |
| Neoplasm of the skeletal system | 0.9345794392523363 |
| Prominent corneal nerve fibers | 0.9345794392523363 |
| Thyroid C cell hyperplasia | 0.9345794392523363 |
| Elevated urinary vanillylmandelic acid | 0.9345794392523363 |
| Thick vermilion border | 0.9345794392523363 |
| Ganglioneuromatosis | 0.9345794392523363 |
| Cervical lymphadenopathy | 0.9345794392523363 |
| Thyroid nodule | 0.9345794392523363 |
| Abnormal tongue morphology | 0.9345794392523363 |
| Neck pain | 0.9345794392523363 |
| Multiple mucosal neuromas | 0.9345794392523363 |
| Cervical neoplasm | 0.9345794392523363 |
| Cutaneous lichen amyloidosis | 0.9345794392523363 |
| Hypertensive crisis | 0.9345794392523363 |
| Abnormality of the femoral metaphysis | 0.9345794392523363 |
| Abnormality of the tibial metaphysis | 0.9345794392523363 |
| Oculomotor nerve palsy | 0.9345794392523363 |
| Neoplasm of the central nervous system | 0.9345794392523363 |
| Cerebral palsy | 0.9345794392523363 |
| Abnormality of the kidney | 0.9345794392523363 |
| Abnormality of the pancreas | 0.9345794392523363 |
| Neonatal respiratory distress | 0.9345794392523363 |
| Asterixis | 0.9345794392523363 |
| Meconium stained amniotic fluid | 0.9345794392523363 |
| Abnormal pineal melatonin secretion | 0.9345794392523363 |
| Abnormal serum interleukin level | 0.9345794392523363 |
| Pruritus on foot | 0.9345794392523363 |
| Palmar pruritus | 0.9345794392523363 |
| Preeclampsia | 0.9345794392523363 |
| Abnormality of the neck | 0.9345794392523363 |
| Obesity | 0.9345794392523363 |
| Abnormal intestine morphology | 0.9345794392523363 |
| Recurrent singultus | 0.9345794392523363 |
| Intermittent claudication | 0.9345794392523363 |
| Unerupted tooth | 0.9345794392523363 |
| Hepatoblastoma | 0.9345794392523363 |
| Papillary thyroid carcinoma | 0.9345794392523363 |
| Multiple gastric polyps | 0.9345794392523363 |
| Duodenal polyposis | 0.9345794392523363 |
| Adenomatous colonic polyposis | 0.9345794392523363 |
| Biliary tract obstruction | 0.9345794392523363 |
| Duodenal adenocarcinoma | 0.9345794392523363 |
| Congenital hypertrophy of retinal pigment epithelium | 0.9345794392523363 |
| Odontoma | 0.9345794392523363 |
| Cholangiocarcinoma | 0.9345794392523363 |
| Desmoid tumors | 0.9345794392523363 |
| Osteoma | 0.9345794392523363 |
| Neoplasm of the gallbladder | 0.9345794392523363 |
| Thyroiditis | 0.9345794392523363 |
| Abnormality of the cementum | 0.9345794392523363 |
| Granulocytopenia | 0.9345794392523363 |
| Hypochromic anemia | 0.9345794392523363 |
| Refractory anemia with ringed sideroblasts | 0.9345794392523363 |
| Hyposegmentation of neutrophil nuclei | 0.9345794392523363 |
| Abnormal number of granulocyte precursors | 0.9345794392523363 |
| Megaloblastic erythroid hyperplasia | 0.9345794392523363 |
| Thickened nuchal skin fold | 0.9345794392523363 |
| Abnormal thorax morphology | 0.9345794392523363 |
| Mitral valve prolapse | 0.9345794392523363 |
| Restrictive cardiomyopathy | 0.9345794392523363 |
| Excessive wrinkled skin | 0.9345794392523363 |
| Abnormal pattern of respiration | 0.9345794392523363 |
| Abnormal pulmonary Interstitial morphology | 0.9345794392523363 |
| Cholelithiasis | 0.9345794392523363 |
| Subarachnoid hemorrhage | 0.9345794392523363 |
| Retinal telangiectasia | 0.9345794392523363 |
| Insulin resistance | 0.9345794392523363 |
| Progeroid facial appearance | 0.9345794392523363 |
| Lipoatrophy | 0.9345794392523363 |
| Lymphocytosis | 0.9345794392523363 |
| Leukocoria | 0.9345794392523363 |
| Leukemia | 0.9345794392523363 |
| Reduced visual acuity | 0.9345794392523363 |
| Retinal calcification | 0.9345794392523363 |
| Glioma | 0.9345794392523363 |
| Retinoblastoma | 0.9345794392523363 |
| Hyphema | 0.9345794392523363 |
| Ewing sarcoma | 0.9345794392523363 |
| Subretinal pigment epithelium hemorrhage | 0.9345794392523363 |
| Red eye | 0.9345794392523363 |
| Pineoblastoma | 0.9345794392523363 |
| Hypopyon | 0.9345794392523363 |
| Leiomyosarcoma | 0.9345794392523363 |
| Hydrocele testis | 0.9345794392523363 |
| Ankle swelling | 0.9345794392523363 |
| Predominantly lower limb lymphedema | 0.9345794392523363 |
| Toenail dysplasia | 0.9345794392523363 |
| Angiosarcoma | 0.9345794392523363 |
| Abnormal nasal mucosa morphology | 0.9345794392523363 |
| Dacryocystitis | 0.9345794392523363 |
| Abnormality of the adrenal glands | 0.9345794392523363 |
| Hyperthyroidism | 0.9345794392523363 |
| Hypopigmentation of the skin | 0.9345794392523363 |
| Eosinophilia | 0.9345794392523363 |
| Tubulointerstitial nephritis | 0.9345794392523363 |
| Upper airway obstruction | 0.9345794392523363 |
| Increased CSF protein | 0.9345794392523363 |
| Proximal muscle weakness | 0.9345794392523363 |
| Ventricular tachycardia | 0.9345794392523363 |
| Enlarged lacrimal glands | 0.9345794392523363 |
| Abnormality of the gastrointestinal tract | 0.9345794392523363 |
| Enlargement of parotid gland | 0.9345794392523363 |
| Erythema nodosum | 0.9345794392523363 |
| Abnormal reproductive system morphology | 0.9345794392523363 |
| Heart block | 0.9345794392523363 |
| Abnormal liver parenchyma morphology | 0.9345794392523363 |
| Maculopapular exanthema | 0.9345794392523363 |
| Increased T cell count | 0.9345794392523363 |
| Xerostomia | 0.9345794392523363 |
| Agitation | 0.9345794392523363 |
| Neurodegeneration | 0.9345794392523363 |
| Muscle spasm | 0.9345794392523363 |
| Amyotrophic lateral sclerosis | 0.9345794392523363 |
| Laryngospasm | 0.9345794392523363 |
| Fatigable weakness of swallowing muscles | 0.9345794392523363 |
| Fatigable weakness of respiratory muscles | 0.9345794392523363 |
| Polycystic kidney dysplasia | 0.9345794392523363 |
| Hepatic cysts | 0.9345794392523363 |
| Status epilepticus | 0.9345794392523363 |
| Poor speech | 0.9345794392523363 |
| Cortical dysplasia | 0.9345794392523363 |
| Focal-onset seizure | 0.9345794392523363 |
| Repetitive compulsive behavior | 0.9345794392523363 |
| Subependymal nodules | 0.9345794392523363 |
| Cortical tubers | 0.9345794392523363 |
| Subependymal giant-cell astrocytoma | 0.9345794392523363 |
| Hypomelanotic macule | 0.9345794392523363 |
| Cardiac rhabdomyoma | 0.9345794392523363 |
| Noncommunicating hydrocephalus | 0.9345794392523363 |
| Respiratory tract infection | 0.9345794392523363 |
| Abnormal social behavior | 0.9345794392523363 |
| Infantile spasms | 0.9345794392523363 |
| Neurodevelopmental delay | 0.9345794392523363 |
| Retinal astrocytic hamartoma | 0.9345794392523363 |
| Pancreatic endocrine tumor | 0.9345794392523363 |
| Chorioretinal hypopigmentation | 0.9345794392523363 |
| Carcinoid tumor | 0.9345794392523363 |
| Impulsivity | 0.9345794392523363 |
| Abnormality of the outer ear | 0.9345794392523363 |
| Decreased response to growth hormone stimuation test | 0.9345794392523363 |
| Deformed rib cage | 0.9345794392523363 |
| Abnormality of finger | 0.9345794392523363 |
| Abnormal joint morphology | 0.9345794392523363 |
| Exocrine pancreatic insufficiency | 0.9345794392523363 |
| Aplastic anemia | 0.9345794392523363 |
| Pneumonia | 0.9345794392523363 |
| Steatorrhea | 0.9345794392523363 |
| Pancreatic hypoplasia | 0.9345794392523363 |
| Metaphyseal irregularity | 0.9345794392523363 |
| Recurrent viral infections | 0.9345794392523363 |
| Low levels of vitamin A | 0.9345794392523363 |
| Increased mean corpuscular volume | 0.9345794392523363 |
| Metaphyseal chondrodysplasia | 0.9345794392523363 |
| Proximal femoral epiphysiolysis | 0.9345794392523363 |
| Low levels of vitamin K | 0.9345794392523363 |
| Impaired neutrophil chemotaxis | 0.9345794392523363 |
| Abnormality of the thoracic cavity | 0.9345794392523363 |
| Low levels of vitamin D | 0.9345794392523363 |
| Low levels of vitamin E | 0.9345794392523363 |
| Chronic neutropenia | 0.9345794392523363 |
| Transient neutropenia | 0.9345794392523363 |
| Hypoamylasemia | 0.9345794392523363 |
| Hepatosplenomegaly | 0.9345794392523363 |
| Extramedullary hematopoiesis | 0.9345794392523363 |
| Easy fatigability | 0.9345794392523363 |
| Hematological neoplasm | 0.9345794392523363 |
| Poikilocytosis | 0.9345794392523363 |
| Low-grade fever | 0.9345794392523363 |
| Abnormal megakaryocyte morphology | 0.9345794392523363 |
| Flank pain | 0.9345794392523363 |
| Ecchymosis | 0.9345794392523363 |
| Reduced antithrombin III activity | 0.9345794392523363 |
| Superficial thrombophlebitis | 0.9345794392523363 |
| Recurrent thromboembolism | 0.9345794392523363 |
| Cerebral venous thrombosis | 0.9345794392523363 |
| Retinal vein occlusion | 0.9345794392523363 |
| Hepatic vein thrombosis | 0.9345794392523363 |
| Pregnancy exposure | 0.9345794392523363 |
| Reduced antithrombin antigen | 0.9345794392523363 |
| Recurrent spontaneous abortion | 0.9345794392523363 |
| Gastrointestinal arteriovenous malformation | 0.9345794392523363 |
| Abnormal trachea morphology | 0.9345794392523363 |
| Abnormality of the lower limb | 0.9345794392523363 |
| Abnormality of the upper limb | 0.9345794392523363 |
| Abnormality of the nasal cavity | 0.9345794392523363 |
| Abnormal digit morphology | 0.9345794392523363 |
| Abnormal renal morphology | 0.9345794392523363 |
| Oral mucosa nodule | 0.9345794392523363 |
| Skin nodule | 0.9345794392523363 |
| Low-set, posteriorly rotated ears | 0.9345794392523363 |
| Fetal akinesia sequence | 0.9345794392523363 |
| Neonatal death | 0.9345794392523363 |
| Stillbirth | 0.9345794392523363 |
| Congenital nonbullous ichthyosiform erythroderma | 0.9345794392523363 |
| Enlarged kidney | 0.9345794392523363 |
| Adrenal insufficiency | 0.9345794392523363 |
| Cholestasis | 0.9345794392523363 |
| Renal amyloidosis | 0.9345794392523363 |
| Chronic diarrhea | 0.9345794392523363 |
| Abnormal oral mucosa morphology | 0.9345794392523363 |
| Anemic pallor | 0.9345794392523363 |
| Anemia of inadequate production | 0.9345794392523363 |
| Abnormal circulating albumin concentration | 0.9345794392523363 |
| Multiple lineage myelodysplasia | 0.9345794392523363 |
| Abnormal mean corpuscular volume | 0.9345794392523363 |
| Abnormal rectum morphology | 0.9345794392523363 |
| Hepatic encephalopathy | 0.9345794392523363 |
| Hepatic necrosis | 0.9345794392523363 |
| Neoplasm | 0.9345794392523363 |
| Hyponatremia | 0.9345794392523363 |
| Type II diabetes mellitus | 0.9345794392523363 |
| Anasarca | 0.9345794392523363 |
| Liver abscess | 0.9345794392523363 |
| Hemobilia | 0.9345794392523363 |
| Metabolic alkalosis | 0.9345794392523363 |
| Epigastric pain | 0.9345794392523363 |
| Chorioretinal atrophy | 0.9345794392523363 |
| Motor delay | 0.9345794392523363 |
| Falciform retinal fold | 0.9345794392523363 |
| Peripheral retinal avascularization | 0.9345794392523363 |
| Mild global developmental delay | 0.9345794392523363 |
| Rhegmatogenous retinal detachment | 0.9345794392523363 |
| Abnormality of the optic disc | 0.9345794392523363 |
| Macular exudate | 0.9345794392523363 |
| Macular telangiectasia | 0.9345794392523363 |
| Retinal neovascularization | 0.9345794392523363 |
| Subretinal fluid | 0.9345794392523363 |
| Papilledema | 0.9345794392523363 |
| Cardiomyopathy | 0.9345794392523363 |
| Pancreatic cysts | 0.9345794392523363 |
| Paraganglioma | 0.9345794392523363 |
| Elevated circulating catecholamine level | 0.9345794392523363 |
| Upper limb muscle weakness | 0.9345794392523363 |
| Abnormal left ventricular function | 0.9345794392523363 |
| Cerebellar hemangioblastoma | 0.9345794392523363 |
| Pancreatic islet cell adenoma | 0.9345794392523363 |
| Distal lower limb muscle weakness | 0.9345794392523363 |
| Papillary cystadenoma of the epididymis | 0.9345794392523363 |
| Limb pain | 0.9345794392523363 |
| Endolymphatic sac tumor | 0.9345794392523363 |
| Epididymal cyst | 0.9345794392523363 |
| Retinal arteriolar tortuosity | 0.9345794392523363 |
| Ureteral stenosis | 0.9345794392523363 |
| Abnormal oral cavity morphology | 0.9345794392523363 |
| Chronic otitis media | 0.9345794392523363 |
| Sensory neuropathy | 0.9345794392523363 |
| Abnormality of the hypothalamus-pituitary axis | 0.9345794392523363 |
| Purpura | 0.9345794392523363 |
| Granulomatosis | 0.9345794392523363 |
| Recurrent intrapulmonary hemorrhage | 0.9345794392523363 |
| Periorbital edema | 0.9345794392523363 |
| Glomerulonephritis | 0.9345794392523363 |
| Nail bed telangiectasia | 0.9345794392523363 |
| Recurrent skin infections | 0.9345794392523363 |
| Abnormal stomach morphology | 0.9345794392523363 |
| Gastroparesis | 0.9345794392523363 |
| Intestinal bleeding | 0.9345794392523363 |
| Gastrointestinal telangiectasia | 0.9345794392523363 |
| Bowel incontinence | 0.9345794392523363 |
| Elevated serum creatine kinase | 0.9345794392523363 |
| Spotty hypopigmentation | 0.9345794392523363 |
| Acral ulceration | 0.9345794392523363 |
| Abnormal phalangeal joint morphology of the hand | 0.9345794392523363 |
| Osteolytic defects of the phalanges of the hand | 0.9345794392523363 |
| Abnormality of facial soft tissue | 0.9345794392523363 |
| Sclerodactyly | 0.9345794392523363 |
| Constrictive median neuropathy | 0.9345794392523363 |
| Albuminuria | 0.9345794392523363 |
| Finger swelling | 0.9345794392523363 |
| Calcinosis cutis | 0.9345794392523363 |
| Anti-topoisomerase I antibody positivity | 0.9345794392523363 |
| Anti-centromere antibody positivity | 0.9345794392523363 |
| Raynaud phenomenon | 0.9345794392523363 |
| Digital pitting scar | 0.9345794392523363 |
| Interstitial cardiac fibrosis | 0.9345794392523363 |
| Cutaneous sclerotic plaque | 0.9345794392523363 |
| Atrial septal defect | 0.9345794392523363 |
| Abnormal tricuspid valve morphology | 0.9345794392523363 |
| Abnormality of the pulmonary artery | 0.9345794392523363 |
| Hypercoagulability | 0.9345794392523363 |
| Abnormal mitral valve morphology | 0.9345794392523363 |
| Deviation of finger | 0.9345794392523363 |
| Abnormal platelet function | 0.9345794392523363 |
| Abnormality of the hand | 0.9345794392523363 |
| Clumsiness | 0.9345794392523363 |
| Proximal muscle weakness in lower limbs | 0.9345794392523363 |
| Hypersexuality | 0.9345794392523363 |
| Kayser-Fleischer ring | 0.9345794392523363 |
| Acute hepatitis | 0.9345794392523363 |
| Dilatation of the cerebral artery | 0.9345794392523363 |
| Hypospadias | 0.9345794392523363 |
| Low anterior hairline | 0.9345794392523363 |
| Short neck | 0.9345794392523363 |
| Downslanted palpebral fissures | 0.9345794392523363 |
| Telecanthus | 0.9345794392523363 |
| Thick eyebrow | 0.9345794392523363 |
| Synophrys | 0.9345794392523363 |
| Periodontitis | 0.9345794392523363 |
| Pectus carinatum | 0.9345794392523363 |
| Aortic valve stenosis | 0.9345794392523363 |
| Mitral stenosis | 0.9345794392523363 |
| Short toe | 0.9345794392523363 |
| Coarse hair | 0.9345794392523363 |
| Intestinal malrotation | 0.9345794392523363 |
| Absent frontal sinuses | 0.9345794392523363 |
| Platybasia | 0.9345794392523363 |
| Downturned corners of mouth | 0.9345794392523363 |
| Patellar dislocation | 0.9345794392523363 |
| Syringomyelia | 0.9345794392523363 |
| Decreased skull ossification | 0.9345794392523363 |
| Biconcave vertebral bodies | 0.9345794392523363 |
| Hypoplastic 5th lumbar vertebrae | 0.9345794392523363 |
| Short distal phalanx of finger | 0.9345794392523363 |
| Hypoplasia of the zygomatic bone | 0.9345794392523363 |
| Partial absence of toe | 0.9345794392523363 |
| Hyperinsulinemic hypoglycemia | 0.9345794392523363 |
| Nonketotic hypoglycemia | 0.9345794392523363 |
| Abnormal rapid eye movement sleep | 0.9345794392523363 |
| Polyphagia | 0.9345794392523363 |
| Abnormality of the pancreatic islet cells | 0.9345794392523363 |
| Fluctuations in consciousness | 0.9345794392523363 |
| Fasting hyperinsulinemia | 0.9345794392523363 |
| Transient global amnesia | 0.9345794392523363 |
| Abnormality of pain sensation | 0.9345794392523363 |
| Reactive hypoglycemia | 0.9345794392523363 |
| Neuroendocrine neoplasm | 0.9345794392523363 |
| Urticaria | 0.9345794392523363 |
| Asthma | 0.9345794392523363 |
| Chronic leukemia | 0.9345794392523363 |
| Impaired temperature sensation | 0.9345794392523363 |
| Mastocytosis | 0.9345794392523363 |
| Angioedema | 0.9345794392523363 |
| Erythroid hypoplasia | 0.9345794392523363 |
| Poor wound healing | 0.9345794392523363 |
| Prolonged partial thromboplastin time | 0.9345794392523363 |
| Spontaneous, recurrent epistaxis | 0.9345794392523363 |
| Prolonged bleeding after surgery | 0.9345794392523363 |
| Joint hemorrhage | 0.9345794392523363 |
| Prolonged bleeding after dental extraction | 0.9345794392523363 |
| Reduced factor IX activity | 0.9345794392523363 |
| Intramuscular hematoma | 0.9345794392523363 |
| Cephalohematoma | 0.9345794392523363 |
| Delayed onset bleeding | 0.9345794392523363 |
| Menometrorrhagia | 0.9345794392523363 |
| Abnormal renal physiology | 0.9345794392523363 |
| Clinodactyly of the 5th toe | 0.9345794392523363 |
| Esophageal carcinoma | 0.9345794392523363 |
Distribution of the genome coverage of all mutations characterized in the cohort. Second figure shows the same results for SORs.
No genomic data was specified for this cohort
No genomic data was specified for this cohort
Analysis of the HPO terms within the HPO ontology and the cohort of patients. Left: distribution of terms within the ontology and the cohort. Right: percentage of terms distribution within the ontology and the cohort.
HPOs frequency distribution. Colour based on the HPO frequency.
All patients are clustered using their HPO profiles. First figure shows the information coefficient distribution for the top clusters. Second figure shows which chromosomes are affected in the patients for each top cluster.
Genomic data was not specified
For each patient profile size (number of phenotypes, x-axis) it is shown the number of HPO phenotypes that are parent of other terms within the profile (number of parent terms, y-axis).
First figure shows the ICs distribution in terms of the HP ontology (x-axis) and for each single HPO term, its frequency in the cohort according to the HP ontology structure (y-axis) and the second figure shows the same distributions considering the profiles analyzed.
| Patients in Cluster 0 | Phenotypes | Frequency |
|---|---|---|
| 2 | Subcutaneous nodule, Abdominal pain, Gastrointestinal dysmotility, Abnormal renal physiology | 100.0, 50.0, 100.0, 50.0 |
For each patient, their HPO profile similarity coefficient is calculated according to the different methods specified in the analysis and represented in these heatmaps.
